P29R (p.Pro29Arg) variant of IDUA (Alpha-L-iduronidase)
P29R (p.Pro29Arg) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- rs768462916
- ClinGen CA2801111
- ClinVar RCV003075118
- ClinVar RCV003085283
- Uncertain significance
- Inborn genetic diseases; not provided; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Mucopolysaccharidosis typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)